Annotation Detail
Information
- Associated Genes
- CDKN1A
- Associated Variants
-
CAV3 p.Pro105Leu (p.P105L)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Pro105Leu (p.P105L) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- muscular atrophy
- Source Database
- DisGeNET
- Description
- Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase in phosphorylated Smad2 (p-Smad2) as well as p21 (also known as Cdkn1a), a myostatin target gene.
- Pubmed
- 17039257
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2006
Drugs